Francesco Muntoni Q & A

First up in 2014, we have Francesco Muntoni of University College London. Francesco is both a clinician and scientist, and set up the first SMA-dedicated clinic in 1995, the year that mutations in the surivival motor neuron 1 (SMN1) gene were identified as playing a causative role in SMA.

When and why did you first decide you wanted to be a scientist/clinician? 

During my medical degree I got quite involved in basic research; I decided, however, that I wanted to apply information and knowledge to my clinical training, so right from the beginning I thought a clinician scientist career was the most interesting for me.

How did you come to work on SMA?

My original neuromuscular mentor, Prof. Victor Dubowitz (at the Hammersmith Hospital, Imperial College, London), had a lot of expertise on clinical aspects of SMA. When I began to work with him I started to enjoy the clinical exposure to SMA kids (In 1995, I established for the first time a SMA-dedicated clinic). With the identification of the survival motor neuron (SMN) genetic defect, and in collaboration with colleagues with expertise on RNA, I also started to work on specific genetic aspects of the disorder in the early 2000s.

What would you be if you weren’t a scientist/clinician?

I really like sailing, whether this would have given me a living…

If you are not in the lab or seeing patients, you are...

At an airport or attending a scientific meeting.

Describe yourself in three words 

Hard-worker, demanding, fair.

What has been the most important moment of your career so far? 

The move from Italy to UK in 1993, followed by the recent move to University College London in 2007.

What is your most memorable finding relating to SMA?

Along with other laboratories, demonstrating the effect that some of the antisense oligonucleotides have in improving survival and symptoms in severe SMA mouse models ­ it is simply astonishing.

What is your favourite conference location? 

I never thought about that! I prefer either very small (20-30 people) brainstorming workshops (such as the ones organized by the European Neuromuscular Centre near Amsterdam) or medium size conferences (300-500 participants) that meet in a relatively secluded place to maximise the possibility to interact with your colleagues. The World Muscle Society organises this type of annual meeting, with the most memorable meetings for me probably in Kruger Park (South Africa) and Iguassu Falls (Brazil).

What is the best scientific advice you ever received? 

To consider using my clinical competencies in child neurology and in genetics to concentrate on childhood neuromuscular diseases.

If you could start your career all over again, are there things you would do differently?

Not really.

In your opinion, what makes a good scientist?

Be receptive to criticism, as others may see what you do not. And study, study, study and work, work, work…

Where do you see the SMA research field in the next 10 years? 

I think the hope that there will be at least some partially effective therapeutic intervention is now becoming tangible, so the translational research in SMA, now at the beginning, is likely to become an avalanche in the years to come. In parallel, we will much better understand the function of the SMN protein, and know more about other genes and proteins that modify the severity of the condition (SMA Support UK: like Plastin 3 - click here for further information). This, in turn, might provide clues for additional therapeutic interventions, so all in all, I think the next 10 years will be very interesting and rewarding.